Generation of an induced pluripotent stem cell line (SDQLCHi003-a) from a patient with short rib-thoracic dysplasia syndrome type III carrying compound heterozygous mutations in DYNC2H1

Compound Heterozygous ◽

Syndrome Type ◽

Stem Cell Line ◽

Type Iii ◽

Compound Heterozygous Mutations ◽

Induced pluripotent stem cell line UOMi002-A from a patient with Leigh syndrome with compound heterozygous mutations in the NDUFV1 gene

Stem Cell Research ◽

10.1016/j.scr.2020.101964 ◽

2020 ◽

Vol 48 ◽

pp. 101964

Author(s):

Glen Lester Sequiera ◽

Cheryl Rockman-Greenberg ◽

Sanjiv Dhingra

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Leigh Syndrome ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Compound Heterozygous Mutations ◽

Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene

Stem Cell Research ◽

10.1016/j.scr.2019.101386 ◽

2019 ◽

Vol 35 ◽

pp. 101386

Author(s):

Marina Riera ◽

Achchhe Patel ◽

Borja Corcostegui ◽

Stanley Chang ◽

Barbara Corneo ◽

...

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Retinitis Pigmentosa Patient ◽

Stem Cell Line ◽

Compound Heterozygous Mutations ◽

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)

Stem Cell Research ◽

10.1016/j.scr.2018.06.009 ◽

2018 ◽

Vol 30 ◽

pp. 175-179 ◽

Cited By ~ 2

Author(s):

Valentina Alari ◽

Silvia Russo ◽

Davide Rovina ◽

Aoife Gowran ◽

Maria Garzo ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Syndrome Type ◽

Stem Cell Line ◽

Stop Mutation ◽

Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene

Stem Cell Research ◽

10.1016/j.scr.2019.101408 ◽

2019 ◽

Vol 36 ◽

pp. 101408 ◽

Cited By ~ 1

Author(s):

Rong Li ◽

Amanda Baskfield ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Mucopolysaccharidosis Type ◽

Stem Cell Line ◽

Mps Iva ◽

Induced Pluripotent ◽

Mucopolysaccharidosis Type Iva

An induced pluripotent stem cell line (SHEHi002-A (5426))from a patient of long QT syndrome type 8 with c.2573G>A mutation in the gene CACNA1C

Stem Cell Research ◽

10.1016/j.scr.2020.101731 ◽

2020 ◽

Vol 43 ◽

pp. 101731

Author(s):

Hong-Mei Zhou ◽

Xiao-Qian Zhou ◽

Ji-Zhen Lu ◽

Wen-Wen Jia ◽

Jiu-Hong Kang

Keyword(s):

Stem Cell ◽

Cell Line ◽

Long Qt Syndrome ◽

Pluripotent Stem Cell ◽

Syndrome Type ◽

Stem Cell Line ◽

Long Qt ◽

Qt Syndrome ◽

Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)

Stem Cell Research ◽

10.1016/j.scr.2018.11.015 ◽

2019 ◽

Vol 34 ◽

pp. 101354 ◽

Cited By ~ 2

Author(s):

Ying-qian Lu ◽

En-lin Dong ◽

Wei-qi Yang ◽

Lu-lu Lai ◽

Xiao-hong Lin ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Hereditary Spastic Paraplegia ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Spastic Paraplegia ◽

Stem Cell Line ◽

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

Stem Cell Research ◽

10.1016/j.scr.2021.102632 ◽

2021 ◽

pp. 102632

Author(s):

Carmen Hernández-Ainsa ◽

Andrés Nascimento ◽

Cristina Jou ◽

Rafael Artuch ◽

Julio Montoya ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Heterozygous Patient ◽

Establishment of an induced pluripotent stem cell line from a retinitis pigmentosa patient with compound heterozygous CRB1 mutation

Stem Cell Research ◽

10.1016/j.scr.2018.08.001 ◽

2018 ◽

Vol 31 ◽

pp. 147-151 ◽

Cited By ~ 3

Author(s):

Xiao Zhang ◽

Dan Zhang ◽

Shang-Chih Chen ◽

Tina Lamey ◽

Jennifer A. Thompson ◽

...

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Compound Heterozygous ◽

Retinitis Pigmentosa Patient ◽

Stem Cell Line ◽

Establishment of induced pluripotent stem cell line CSUASOi003- A from an autosomal recessive retinitis pigmentosa patient carrying compound heterozygous mutations in CRB1 gene

Stem Cell Research ◽

10.1016/j.scr.2020.101742 ◽

2020 ◽

Vol 44 ◽

pp. 101742

Author(s):

Yalan Zhou ◽

Chengcheng Ding ◽

Shutao Xia ◽

Yutong Jing ◽

Shengru Mao ◽

...

Keyword(s):

Stem Cell ◽

Retinitis Pigmentosa ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Retinitis Pigmentosa Patient ◽

Stem Cell Line ◽

Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

Stem Cell Research ◽

10.1016/j.scr.2018.01.006 ◽

2018 ◽

Vol 27 ◽

pp. 90-94 ◽

Cited By ~ 1

Author(s):

Ana Marote ◽

Yuriy Pomeshchik ◽

Stefano Goldwurm ◽

Anna Collin ◽

Nuno J. Lamas ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Compound Heterozygous Mutation ◽

Heterozygous Mutation ◽

Compound Heterozygous ◽

Stem Cell Line ◽